Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
SLC30A8 p.Arg325Trp (p.R325W)
(
ENST00000427715.2,
ENST00000456015.7,
ENST00000519688.5,
ENST00000521243.5 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Through sequencing or genotyping of ~150,000 individuals across 5 ancestry groups, we identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk and glucose and proinsulin levels.
- Pubmed
- 24584071
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.373621751212336
- Year of publication
- 2014
Drugs